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Article ; Online: Conjunctival lymphangiectasia in a pediatric patient with neurofibromatosis type 1.

Polizzi, Silvio / Caputo, Roberto / Faletra, Flavio / Ferrara, Giovanna

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

2021 Volume 25, Issue 5, Page(s) 307–309

Abstract: Conjunctival lymphangiectasia, a rare condition characterized by dilated lymphatic channels in the bulbar conjunctiva, generally develops as a consequence of a local lymphatic scarring or distal mechanical outflow obstruction following surgery, ... ...

Abstract	Conjunctival lymphangiectasia, a rare condition characterized by dilated lymphatic channels in the bulbar conjunctiva, generally develops as a consequence of a local lymphatic scarring or distal mechanical outflow obstruction following surgery, radiotherapy, neoplastic disease, or other disease processes. The actual cause often remains unknown. We report a case of a unilateral conjunctival lymphangiectasia in a 7-year-old girl with neurofibromatosis type 1 (NF-1) and discuss a possible association between the two entities.
MeSH term(s)	Child ; Conjunctiva ; Conjunctival Diseases/diagnosis ; Conjunctival Diseases/etiology ; Female ; Humans ; Lymphangiectasis/diagnosis ; Lymphangiectasis/etiology ; Neurofibromatosis 1/complications ; Neurofibromatosis 1/diagnosis
Language	English
Publishing date	2021-08-20
Publishing country	United States
Document type	Case Reports
ZDB-ID	1412476-2
ISSN	1528-3933 ; 1091-8531
ISSN (online)	1528-3933
ISSN	1091-8531
DOI	10.1016/j.jaapos.2021.05.006
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Article ; Online: Infant with a big head and 'crossed' polysyndactyly.

Tamaro, Gianluca / Baldo, Francesco / Spedicati, Beatrice / Taddio, Andrea / Faletra, Flavio / Barbi, Egidio

Journal of paediatrics and child health

2022 Volume 59, Issue 5, Page(s) 770–771

Language	English
Publishing date	2022-06-18
Publishing country	Australia
Document type	Case Reports
ZDB-ID	1024476-1
ISSN	1440-1754 ; 1034-4810
ISSN (online)	1440-1754
ISSN	1034-4810
DOI	10.1111/jpc.16063
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Zs.A 227: Show issues

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Article ; Online: Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature.

Fantasia, Ilaria / Faletra, Flavio / Bussani, Rossana / Murru, Flora Maria / Ottaviani Giammarco, Chiara / Travan, Laura / Sirchia, Fabio / Feresin, Agnese / Stampalija, Tamara

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

2023 Volume 36, Issue 2, Page(s) 2232075

Abstract: Objective: The septum pellucidum is a virtual cavity located at the anterior part of the brain midline, which only in fetal life has a certain amount of fluid inside. The presence of an obliterated cavum septi pellucidi (oCSP) in the prenatal period is ... ...

Abstract	Objective: The septum pellucidum is a virtual cavity located at the anterior part of the brain midline, which only in fetal life has a certain amount of fluid inside. The presence of an obliterated cavum septi pellucidi (oCSP) in the prenatal period is poorly described in the literature but, nevertheless, it constitutes an important clinical dilemma for the fetal medicine specialist in terms of significance and prognosis. Moreover, its occurrence is increasing maybe because of the widespread of high-resolution ultrasound machine. The aim of this work is to review the available literature regarding the oCSP along with the description of a case-report of oCSP with an unexpected outcome. Methods: A search of the literature through Pubmed was performed up to December 2022 with the aim to identify all cases of oCSP previously described, using as keywords "cavum septi pellucidi," "abnormal cavum septi pellucidi," "fetus," and "septum pellucidum." Along with the narrative review, we describe a case-report of oCSP. Results: A 39 years old woman was diagnosed with a nuchal translucency between the 95° and 99° centile in the first trimester and an oCSP and "hookshaped" gallbladder at 20 weeks. Left polymicrogyria was found at fetal magnetic resonance imaging (MRI). Standard karyotype and chromosomal microarray analysis (CMA) were normal. After birth, the newborn presented signs of severe acidosis, untreatable seizures and multiorgan failure leading to death. A targeted gene analysis of the epilepsy panel revealed the presence of a Conclusions: This case-report and review of the literature shows that oCSP is a clinical entity poorly described so far and that, despite the generally good prognosis, it requires caution in counseling. The diagnostic work-up should include neurosonography while fetal MRI may be always indicated for non-isolated cases only, depending on local facilities. Targeted gene analysis or whole exome sequencing may be indicated for non-isolated cases.
MeSH term(s)	Pregnancy ; Infant, Newborn ; Female ; Humans ; Adult ; Septum Pellucidum/diagnostic imaging ; Brain ; Epilepsy ; Fetus ; Prenatal Care ; Magnetic Resonance Imaging
Language	English
Publishing date	2023-07-06
Publishing country	England
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2077261-0
ISSN	1476-4954 ; 1057-0802 ; 1476-7058
ISSN (online)	1476-4954
ISSN	1057-0802 ; 1476-7058
DOI	10.1080/14767058.2023.2232075
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Zs.A 3510: Show issues

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Article ; Online: Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature.

Elefante, Pierandrea / Spedicati, Beatrice / Faletra, Flavio / Pignata, Laura / Cerrato, Flavia / Riccio, Andrea / Barbi, Egidio / Memo, Luigi / Travan, Laura

Italian journal of pediatrics

2023 Volume 49, Issue 1, Page(s) 127

Abstract: Background: Beckwith-Wiedemann syndrome (BWS, OMIM #130,650) is a pediatric overgrowth disorder involving a predisposition to tumor development. Although the clinical management of affected patients is well established, it is less clear how to handle ... ...

Abstract	Background: Beckwith-Wiedemann syndrome (BWS, OMIM #130,650) is a pediatric overgrowth disorder involving a predisposition to tumor development. Although the clinical management of affected patients is well established, it is less clear how to handle with the cases of siblings of affected patients, since the prevalence of the condition in twins (1:1000) is ten times higher than in singletones (1:10000). Case presentation: We report the case of a premature twin patient who during her follow-up develops a clinical phenotype compatible with BWS, genetically confirmed in blood. However, the methylation alteration characteristic of the condition was also found in the almost phenotypically normal sibling, making it challening her management. Conclusion: Through our case report we highlight how the diagnosis of BWS can be made without any prenatal suspicion and we propose a review of the literature on how to manage siblings of affected patients in twinning situation.
MeSH term(s)	Female ; Child ; Pregnancy ; Humans ; Beckwith-Wiedemann Syndrome/diagnosis ; Beckwith-Wiedemann Syndrome/genetics ; Beckwith-Wiedemann Syndrome/therapy ; Genotype ; Phenotype ; Siblings ; Twins
Language	English
Publishing date	2023-09-25
Publishing country	England
Document type	Review ; Case Reports ; Journal Article
ZDB-ID	2088556-8
ISSN	1824-7288 ; 1720-8424
ISSN (online)	1824-7288
ISSN	1720-8424
DOI	10.1186/s13052-023-01530-8
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Article ; Online: A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.

Zucco, Jessica / Baldan, Federica / Allegri, Lorenzo / Bregant, Elisa / Passon, Nadia / Franzoni, Alessandra / D'Elia, Angela Valentina / Faletra, Flavio / Damante, Giuseppe / Mio, Catia

Journal of human genetics

2024

Abstract: Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially in anterior segment dysgenesis (ASD), have created challenges for proper diagnosis and classification of diseases. Over the last decade, genomic research has indeed boosted ... ...

Abstract	Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially in anterior segment dysgenesis (ASD), have created challenges for proper diagnosis and classification of diseases. Over the last decade, genomic research has indeed boosted our understanding in the molecular basis of ASD and genes associated with both autosomal dominant and recessive patterns of inheritance have been described with a wide range of expressivity. Here we describe the molecular characterization of a cohort of 162 patients displaying isolated or syndromic congenital ocular dysgenesis. Samples were analyzed with diverse techniques, such as direct sequencing, multiplex ligation-dependent probe amplification, and whole exome sequencing (WES), over 20 years. Our data reiterate the notion that PAX6 alterations are primarily associated with ASD, mostly aniridia, since the majority of the cohort (66.7%) has a pathogenic or likely pathogenic variant in the PAX6 locus. Unexpectedly, a high fraction of positive samples (20.3%) displayed deletions involving the 11p13 locus, either partially/totally involving PAX6 coding region or abolishing its critical regulatory region, underlying its significance. Most importantly, the use of WES has allowed us to both assess variants in known ASD genes (i.e., CYP1B1, ITPR1, MAB21L1, PXDN, and PITX2) and to identify rarer phenotypes (i.e., MIDAS, oculogastrointestinal-neurodevelopmental syndrome and Jacobsen syndrome). Our data clearly suggest that WES allows expanding the analytical portfolio of ocular dysgenesis, both isolated and syndromic, and that is pivotal for the differential diagnosis of those conditions in which there may be phenotypic overlaps and in general in ASD.
Language	English
Publishing date	2024-03-08
Publishing country	England
Document type	Journal Article
ZDB-ID	1425192-9
ISSN	1435-232X ; 1434-5161
ISSN (online)	1435-232X
ISSN	1434-5161
DOI	10.1038/s10038-024-01237-6
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Zs.A 201: Show issues

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Article ; Online: Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders

Di Stazio, Mariateresa / Zanus, Caterina / Faletra, Flavio / Pesaresi, Alessia / Ziccardi, Ilaria / Morgan, Anna / Girotto, Giorgia / Costa, Paola / Carrozzi, Marco / d’Adamo, Adamo P. / Musante, Luciana

Genes (Basel). 2023 Jan. 18, v. 14, no. 2

2023

Abstract: CSNK2B encodes for the regulatory subunit of the casein kinase II, a serine/threonine kinase that is highly expressed in the brain and implicated in development, neuritogenesis, synaptic transmission and plasticity. De novo variants in this gene have ... ...

Abstract	CSNK2B encodes for the regulatory subunit of the casein kinase II, a serine/threonine kinase that is highly expressed in the brain and implicated in development, neuritogenesis, synaptic transmission and plasticity. De novo variants in this gene have been identified as the cause of the Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) characterized by seizures and variably impaired intellectual development. More than sixty mutations have been described so far. However, data clarifying their functional impact and the possible pathomechanism are still scarce. Recently, a subset of CSNK2B missense variants affecting the Asp32 in the KEN box-like domain were proposed as the cause of a new intellectual disability-craniodigital syndrome (IDCS). In this study, we combined predictive functional and structural analysis and in vitro experiments to investigate the effect of two CSNK2B mutations, p.Leu39Arg and p.Met132LeufsTer110, identified by WES in two children with POBINDS. Our data prove that loss of the CK2beta protein, due to the instability of mutant CSNK2B mRNA and protein, resulting in a reduced amount of CK2 complex and affecting its kinase activity, may underlie the POBINDS phenotype. In addition, the deep reverse phenotyping of the patient carrying p.Leu39Arg, with an analysis of the available literature for individuals with either POBINDS or IDCS and a mutation in the KEN box-like motif, might suggest the existence of a continuous spectrum of CSNK2B-associated phenotypes rather than a sharp distinction between them.
Keywords	brain ; genes ; haploinsufficiency ; mutants ; non-specific serine/threonine protein kinase ; patients ; phenotype ; plasticity ; serine ; synaptic transmission ; threonine
Language	English
Dates of publication	2023-0118
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article ; Online
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14020250
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: An unusual diagnosis for an usual test.

Trombetta, Andrea / Migliarino, Vanessa / Faletra, Flavio / Barbi, Egidio / Tornese, Gianluca

Italian journal of pediatrics

2020 Volume 46, Issue 1, Page(s) 81

Abstract: Background: Hereditary multiple osteochondromas (HMO) is a genetic condition characterized by the presence of multiple osteochondromas, usually at the lateral side of the most active growth plate of a long bone. These lesions may persist, be ... ...

Abstract	Background: Hereditary multiple osteochondromas (HMO) is a genetic condition characterized by the presence of multiple osteochondromas, usually at the lateral side of the most active growth plate of a long bone. These lesions may persist, be asymptomatic during childhood, and may increase in number and size until growth plates close. Therefore, diagnosis of HMO in children and young people can be challenging; while short stature can be more evident at the onset of puberty, asymptomatic ostheocondromas can progress into different degrees of orthopedic deformity. Moreover, multiple complications may arise due to the presence of osteochondromas, including tendon and compression muscle pain, neurovascular disorders, obstetric problems, scoliosis and malignant transformation into secondary peripheral chondrosarcoma in adulthood. Case presentation: We report the case of a girl admitted to our Institute for growth delay. While laboratory tests, including growth hormone stimulation test, were normal, left hand X-ray revealed multiple osteochondromas, suggestive for HMO. The genetic test for EXT1 and EXT2 genes confirmed the radiological diagnosis, with a mutation inherited from the mother who displayed the same radiological abnormalities along with recurrent limb pain episodes. Conclusions: HMO is a genetic condition whose diagnosis can be challenging, especially in females. Every pediatricians should consider a skeletal dysplasia in case of unexplained growth delay and a skeletal survey might be fundamental in reaching a diagnosis.
MeSH term(s)	Adolescent ; Exostoses, Multiple Hereditary/diagnosis ; Exostoses, Multiple Hereditary/genetics ; Female ; Genetic Testing ; Humans ; Radiography
Language	English
Publishing date	2020-06-10
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2088556-8
ISSN	1824-7288 ; 1720-8424
ISSN (online)	1824-7288
ISSN	1720-8424
DOI	10.1186/s13052-020-00846-z
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Article ; Online: A child without kneecaps.

Baldo, Francesco / Magnolato, Andrea / Bruno, Irene / Faletra, Flavio / Carbone, Marco / Barbi, Egidio

Journal of paediatrics and child health

2021 Volume 58, Issue 3, Page(s) 550

Language	English
Publishing date	2021-12-01
Publishing country	Australia
Document type	Journal Article
ZDB-ID	1024476-1
ISSN	1440-1754 ; 1034-4810
ISSN (online)	1440-1754
ISSN	1034-4810
DOI	10.1111/jpc.1_15519
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Article ; Online: A child without kneecaps.

Baldo, Francesco / Magnolato, Andrea / Bruno, Irene / Faletra, Flavio / Carbone, Marco / Barbi, Egidio

Journal of paediatrics and child health

2021

Language	English
Publishing date	2021-05-07
Publishing country	Australia
Document type	Journal Article
ZDB-ID	1024476-1
ISSN	1440-1754 ; 1034-4810
ISSN (online)	1440-1754
ISSN	1034-4810
DOI	10.1111/jpc.15519
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Article ; Online: Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures.

Spedicati, Beatrice / Morgan, Anna / Pianigiani, Giulia / Musante, Luciana / Rubinato, Elisa / Santin, Aurora / Nardone, Giuseppe Giovanni / Faletra, Flavio / Girotto, Giorgia

Genes

2022 Volume 13, Issue 11

Abstract: Dual molecular diagnoses are defined as the presence of pathogenic variants at two distinct and independently segregating loci that cause two different Mendelian conditions. In this study, we report the identification of double genetic disorders in a ... ...

Abstract	Dual molecular diagnoses are defined as the presence of pathogenic variants at two distinct and independently segregating loci that cause two different Mendelian conditions. In this study, we report the identification of double genetic disorders in a series of patients with complex clinical features. In the last 24 months, 342 syndromic patients have been recruited and clinically characterised. Whole Exome Sequencing analysis has been performed on the proband and on both parents and identified seven patients affected by a dual molecular diagnosis. Upon a detailed evaluation of both their clinical and molecular features, subjects are able to be divided into two groups: (A) five patients who present distinct phenotypes, due to each of the two different underlying genetic diseases; (B) two patients with overlapping clinical features that may be underpinned by both the identified genetic variations. Notably, only in one case a multilocus genomic variation was already suspected during the clinical evaluation. Overall, our findings highlight how dual molecular diagnoses represent a challenging model of complex inheritance that should always be considered whenever a patient shows atypical clinical features. Indeed, an accurate genetic characterisation is of the utmost importance to provide patients with a personalised and safe clinical management.
MeSH term(s)	Phenotype ; Genomics ; Multifactorial Inheritance ; Family
Language	English
Publishing date	2022-11-03
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes13112023
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